Living with Lissencephaly type 3-metacarpal bone dysplasia syndrome
A rare inherited condition with a very small head, brain differences, facial differences, and changes in hand bones, noticed before or at birth.
Understanding Lissencephaly type 3-metacarpal bone dysplasia syndrome
It is marked by a very small head, a smooth brain surface, a missing corpus callosum, a small cerebellum, facial differences, and speckled changes in the hand bones (epiphyseal stippling). GARD says it may be a variant of Neu-Laxova syndrome. It is noticed during pregnancy or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very small head (microcephaly)
- Extra amniotic fluid (polyhydramnios)
- Slow growth before birth
- Joint contractures (arthrogryposis)
- Clubfeet
- Changes in bone structure
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and seizure and epilepsy specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Seizure and epilepsy specialists (epileptologist)
- Expert care
- Expert lists: Epilepsy Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Epilepsy Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is passed on in an autosomal recessive way, which means a child inherits a changed copy of the gene from each parent. GARD does not name a gene.
Also known as: lissencephaly type iii and bone dysplasia
Patient organizations
- Epilepsy FoundationEpilepsy · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Lissencephaly type 3-metacarpal bone dysplasia syndrome.
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